Term Name: congenital hypotrichosis with juvenile macular dystrophy
Synonyms: HJMD, hypotrichosis with cone-rod dystrophy
Definition: A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.
Ontology: Human Disease [DOID:0110711]   ( DOID:0110711 )

Relationships
is a type of: autosomal recessive disease hypotrichosis physical disorder